{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA255728",
  "communityStandardTitle": [
    "NM_000377.3(WAS):c.134C>T (p.Thr45Met)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1165295",
        "active": true,
        "id": "COSM1165295"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=26162[alleleid]",
        "alleleId": 26162,
        "preferredName": "NM_000377.3(WAS):c.134C>T (p.Thr45Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/11123",
        "RCV": [
          "RCV000011872",
          "RCV000851684",
          "RCV001037597",
          "RCV001172206"
        ],
        "variationId": 11123
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.48542673C>T?assembly=hg19",
        "id": "chrX:g.48542673C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.48684284C>T?assembly=hg38",
        "id": "chrX:g.48684284C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/132630273",
        "rs": 132630273
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-48684284-C-T?dataset=gnomad_r4",
        "id": "X-48684284-C-T",
        "variant": "X:48684284 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 48684284,
          "referenceAllele": "C",
          "start": 48684283
        }
      ],
      "hgvs": [
        "NC_000023.11:g.48684284C>T",
        "CM000685.2:g.48684284C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 48542673,
          "referenceAllele": "C",
          "start": 48542672
        }
      ],
      "hgvs": [
        "NC_000023.10:g.48542673C>T",
        "CM000685.1:g.48542673C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 48427617,
          "referenceAllele": "C",
          "start": 48427616
        }
      ],
      "hgvs": [
        "NC_000023.9:g.48427617C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5488,
          "referenceAllele": "C",
          "start": 5487
        }
      ],
      "hgvs": [
        "NG_007877.1:g.5488C>T",
        "LRG_125:g.5488C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000685"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 167,
          "referenceAllele": "C",
          "start": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "ENST00000483750.6:n.167C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905309"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 313,
          "referenceAllele": "C",
          "start": 312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "ENST00000698625.1:c.134C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513844.1:p.Thr45Met",
        "hgvsWellDefined": "ENSP00000513844.1:p.Thr45Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909581"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 160,
          "referenceAllele": "C",
          "start": 159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "ENST00000698626.1:c.134C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513845.1:p.Thr45Met",
        "hgvsWellDefined": "ENSP00000513845.1:p.Thr45Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909582"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 183,
          "referenceAllele": "C",
          "start": 182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "ENST00000698635.1:c.134C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513850.1:p.Thr45Met",
        "hgvsWellDefined": "ENSP00000513850.1:p.Thr45Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909590"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 189,
          "referenceAllele": "C",
          "start": 188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "ENST00000376701.5:c.134C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365891.4:p.Thr45Met",
        "hgvsWellDefined": "ENSP00000365891.4:p.Thr45Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751803",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376701.5:c.134C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000377.3:c.134C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365891.4:p.Thr45Met"
          },
          "RefSeq": {
            "hgvs": "NP_000368.1:p.Thr45Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 209,
          "referenceAllele": "C",
          "start": 208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "ENST00000376701.4:c.134C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365891.4:p.Thr45Met",
        "hgvsWellDefined": "ENSP00000365891.4:p.Thr45Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271277"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 417,
          "referenceAllele": "C",
          "start": 416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "ENST00000450772.5:c.134C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410537.1:p.Thr45Met",
        "hgvsWellDefined": "ENSP00000410537.1:p.Thr45Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300865"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 169,
          "referenceAllele": "C",
          "start": 168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "ENST00000465982.5:n.169C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309465"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 160,
          "referenceAllele": "C",
          "start": 159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "ENST00000483750.5:n.160C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323153"
    },
    {
      "@id": "http://reg.genome.network/allele/PA102371",
      "coordinates": [
        {
          "allele": "T",
          "end": 191,
          "referenceAllele": "C",
          "start": 190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "NM_000377.2:c.134C>T",
        "LRG_125t1:c.134C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000368.1:p.Thr45Met",
        "hgvsWellDefined": "NP_000368.1:p.Thr45Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006439"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 198,
          "referenceAllele": "C",
          "start": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "XM_011543977.1:c.134C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542279.1:p.Thr45Met",
        "hgvsWellDefined": "XP_011542279.1:p.Thr45Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110890"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 196,
          "referenceAllele": "C",
          "start": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "XM_011543977.2:c.134C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542279.1:p.Thr45Met",
        "hgvsWellDefined": "XP_011542279.1:p.Thr45Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555452"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 235,
          "referenceAllele": "C",
          "start": 234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "XM_017029786.1:c.134C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885275.1:p.Thr45Met",
        "hgvsWellDefined": "XP_016885275.1:p.Thr45Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579280"
    },
    {
      "@id": "http://reg.genome.network/allele/PA102371",
      "coordinates": [
        {
          "allele": "T",
          "end": 189,
          "referenceAllele": "C",
          "start": 188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "NM_000377.3:c.134C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000368.1:p.Thr45Met",
        "hgvsWellDefined": "NP_000368.1:p.Thr45Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674817",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376701.5:c.134C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000377.3:c.134C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365891.4:p.Thr45Met"
          },
          "RefSeq": {
            "hgvs": "NP_000368.1:p.Thr45Met"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}